A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065816



Internal ID21197246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72422934..72422934hg38UCSC Ensembl
chr10:74182692..74182692hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036398
SamplesCHM1
Known GenesMICU1, MIR1256
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3065816
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer